Variant report

Variant	rs17149957
Chromosome Location	chr7:87472853-87472854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87472656..87475161-chr7:87505830..87507869,2	K562	blood:
2	chr7:87465363..87469135-chr7:87470380..87473582,3	K562	blood:

Variant related genes	Relation type
ENSG00000075303	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10486998	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12666125	1.00[AMR][1000 genomes]
rs12666563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12666742	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12667129	1.00[AMR][1000 genomes]
rs12668088	1.00[AMR][1000 genomes]
rs12669259	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12670317	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12670560	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12674310	1.00[AMR][1000 genomes]
rs16885871	1.00[AMR][1000 genomes]
rs17146782	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17146787	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17149850	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap]
rs17149854	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17149866	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17149905	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17149907	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17149925	1.00[ASN][1000 genomes]
rs17149933	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17149966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17150051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17150134	1.00[AMR][1000 genomes]
rs17337831	1.00[ASW][hapmap]
rs2022161	1.00[GIH][hapmap]
rs2188829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2237536	1.00[AMR][1000 genomes]
rs2237538	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs2282944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2282945	1.00[AMR][1000 genomes]
rs2282946	1.00[AMR][1000 genomes]
rs2285648	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2299191	1.00[AMR][1000 genomes]
rs28381715	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28381720	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs28381756	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs28505129	0.83[AFR][1000 genomes]
rs3213633	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35229105	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs36187880	1.00[AMR][1000 genomes]
rs3747802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3810881	1.00[AMR][1000 genomes]
rs4728719	1.00[AMR][1000 genomes]
rs4728721	1.00[AMR][1000 genomes]
rs4728723	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs4728728	1.00[AMR][1000 genomes]
rs4728729	1.00[AMR][1000 genomes]
rs971485	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs973445	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87455000-87474200	Weak transcription	Left Ventricle	heart
2	chr7:87455200-87473000	Weak transcription	Liver	Liver
3	chr7:87455200-87486600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:87455400-87474200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:87457400-87474200	Weak transcription	Aorta	Aorta
6	chr7:87457800-87474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:87458200-87478400	Weak transcription	Adipose Nuclei	Adipose
8	chr7:87458400-87478600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:87458600-87474400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:87458600-87480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:87459000-87474200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:87459000-87474400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:87459200-87482400	Weak transcription	A549	lung
14	chr7:87459400-87474200	Weak transcription	Fetal Stomach	stomach
15	chr7:87459400-87474400	Weak transcription	HUVEC	blood vessel
16	chr7:87459600-87473200	Weak transcription	Fetal Thymus	thymus
17	chr7:87459600-87474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:87459600-87474600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:87459600-87474600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:87459800-87474800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:87459800-87478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:87459800-87480600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:87460000-87474400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:87460000-87474400	Weak transcription	Fetal Brain Female	brain
25	chr7:87460200-87478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:87460400-87487200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:87460600-87474400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:87460600-87474400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:87460600-87481200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:87460600-87481600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
32	chr7:87460800-87474400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:87461000-87473400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:87461200-87474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:87461200-87474200	Weak transcription	Ovary	ovary
36	chr7:87461200-87478200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:87461200-87486600	Weak transcription	Psoas Muscle	Psoas
38	chr7:87461400-87474400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:87461400-87486800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:87461600-87473200	Weak transcription	HSMM	muscle
41	chr7:87461600-87474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:87461600-87481600	Weak transcription	Fetal Lung	lung
43	chr7:87462400-87474600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:87462800-87474200	Weak transcription	Pancreas	Pancrea
45	chr7:87462800-87474400	Weak transcription	Gastric	stomach
46	chr7:87463400-87474200	Weak transcription	Fetal Intestine Large	intestine
47	chr7:87463400-87482600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:87463400-87487000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:87463800-87474200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:87463800-87478600	Weak transcription	HepG2	liver

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